Genetic predisposition to statin myopathy.
OBJECTIVE
Genetic predisposition to statin myopathy is a rapidly expanding area of investigation. This review summarizes the latest information on genetic risk factors associated with statin-induced myopathy. Genetic determinants involved in both pharmacokinetics of statins and metabolic muscle diseases are discussed. Data are provided on the prevalence of statin use in the United States; incidence of associated myopathy; terminology relating to statin myopathy and genetic susceptibility; and common myths surrounding this disorder.


RESULTS
Technological advances now make it possible to identify genetic variation in the human genome that reveals disease-causing mutations and single nucleotide polymorphisms associated with disease. More than 30,000 individuals in the United States suffer from severe life-threatening symptoms of statin-induced myopathy that may, in some cases, persist long after the cessation of therapy. Genes of interest include those involved in the pharmacokinetics of the statin response, muscle atrophy, exercise intolerance, pain perception, and mitochondrial energy metabolism.


CONCLUSIONS
Genetic analysis for variants and disease-causing mutations relevant to statin myopathy will provide predisposition testing for this and other drug-induced disorders. This testing will become an integral part of personalized medicine that will contribute to the safe and informed use of selected drugs and improved compliance.
Vladutiu
Georgirene D
GD
Departments of Pediatrics, Neurology and Pathology and Anatomical Sciences, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14203, USA. gdv@buffalo.edu
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000235:genetics; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000009:adverse effects*; D009135:Muscular Diseases / Q000139:chemically induced* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010597:Pharmacogenetics; D012206:Rhabdomyolysis / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics; D012307:Risk Factors; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000172:deficiency; D014481:United States / Q000453:epidemiology
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D014451:Ubiquinone; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase; C024989:coenzyme Q10